Y54Y (p.Tyr54Tyr) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y54Y (p.Tyr54Tyr) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Y54Y (p.Tyr54Tyr) variant details
- p.Tyr54Tyr
- gnomAD 9-5022149-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 3.23
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available